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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 7248 |
Name | TSC1 |
Synonymous | LAM|TSC;tuberous sclerosis 1;TSC1;tuberous sclerosis 1 |
Definition | hamartin|tuberous sclerosis 1 protein|tumor suppressor |
Position | 9q34 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.561C>G; |
n; breast | ER-PR-positive_carcinoma; carcinoma |
Substitution - coding silent; c.36C>A; 9:134794045-134794045 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.2244G>A; 9:134767960-134767960 |
y; ovary | serous_carcinoma; carcinoma |
Substitution - coding silent; c.1518C>G; |
y; upper_aerodigestive_tract; larynx | squamous_cell_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.1669delC; 9:134771117-134771117 |
urinary_tract; bladder | carcinoma |
Deletion - Frameshift; c.2162_2172delGCAAGGTGATC; |
y; ovary | serous_carcinoma; carcinoma |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Complex - frameshift; c.1706_1706G>TT; 12:111813134-111813134 |
n; central_nervous_system; medulla | large_cell; primitive_neuroectodermal_tumour-medulloblastoma |